Genetics have characterized the first gene snippet, which is stated for the increasing blindness in the age by retinal degeneration in the yellow spot.
After cautious estimates, 15 million and in Germany suffer from 1-2 million people at the "age-dependent macular degeneration" (AMD). The name "age-dependent" or "senile" Therefore, the first symptoms with the 40.-50. Life. With increasing age, the likelihood of becoming an illusion, with smoking, hypertension, overweight and certain types of dermalization can effectively affect.
The macula or yellow stain is the focus of our field of view. We use the makula to focus on the picture in our eye. This approaches that a camera with a distance meter. Here we look at the view through the viewfinder usually a small circle to focus. Nothing else makes the makula.
Nevertheless, the age-dependent macular degeneration is a disease that is specifically determined by many factors. Nevertheless, a common license plate has switched out, namely a chromosomal harm on the chromosome 1.
Facial trap with congenital macular degeneration
The other analyzes are now applied to seek the chromosome 1 on disturbances in the genome. For this purpose, the Human Genome project has presented a procedure, which significantly simplifies millions and uplioses of steps. Instead of blocking house for house individually, you can orient yourself to the church tower and thus determine the location of the straws. After that it is relatively easy, with "Snip" (Snips), which in turn consist of numerous partial functions, the individual "Strain" determine. The SNPS (Single Nucleotide Polymorphism) grasp mistakes in the genetic material without necessary to make complete gene analysis. Such simplifying SNIPs have been increased by the researchers.
Small and staff use the information to unravel the SNPs in the Complement H factor (CFH) region. You have 100.000 SNPS checked, which were provided by AffyMetrix. Edwards and employees as well as Haines and staff relatives different SNPs with reference to the 1Q31 region. In all three studies, the results show a CFH region in which Histidine is stored instead of Tyrosin (ScienceXPress). If one now consider further immunological peculiarities that bring the complement system with them, it becomes clear: the harm is set in motion by this mechanism.
"We know that chronic explention plays a role for macular degeneration. The proof of the complement H factor is a first important indication of the role of the inflammation and thus its primary influence", That’s why Jonathan Haines emphasizes.
Immunofluorescence of Complement Factor H (CFH) protein with anti-CFH anti-corporate in human retina
This determination underlines the observation, according to which the age-dependent macular degeneration shows two different standards. The more conventional disease is considered "dry" Shape. Central retinal cells die slowly, so that this cell cancellation leads very much for visual deterioration. Very different with the "wet" Macular degeneration. Here it comes to flux collections, which usually explain oneself from supplementary ereoid habits. The leakage of liquid from the blood vessels thus rapidly creates a harm of the photosensitive cells.
In the course of the disease, there is first a distortion of the image thrown on the retina. For the person concerned, it is the first sign of damage because straight lines appear bent ("Amsler test"To). Father opens stains in the field of field. This increasingly loses the ability to focus on a picture.
Scheme of an Amsler test
Early investigations have shown that the CFH has a protective function on the inflammatory changes and that this protective function is lost in a macular degeneration. Thus, the risk of developing at an age-dependent macular degeneration is significantly increased when demonstrated by TYR402HIS. If one of the paired chromosomes is affected, the risk of 3-5 times, when the entire chromosome set is infested, the risk is calculated on the 5-7 times a healthy.
"15 million people in the US suffer from the AMD and 1.5 million on the heavy form. In the year 2030 with the increasing age of the baby boomer generation, this number will double", explains Eric Postel from the Duke University Eye Center. "It is urgently needed that we start a fresh diagnostics. I probably is the cost-effective proof of TYR402HIS a simple test for further diagnostics and allows therapy — long before the lasting harm."
One thing is certain: the more pronounced the changes are, the smaller the success of a therapy. At least today.